Article
Next-generation phenotyping using computer vision algorithms in rare genomic neurodevelopmental disorders.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Aug 2019
van der Donk Roos, Jansen Sandra, Schuurs-Hoeijmakers Janneke H M, Koolen David A, Goltstein Lia C M J, Hoischen Alexander, Brunner Han G, Kemmeren Patrick, Nellåker Christoffer, Vissers Lisenka E L M, de Vries Bert B A, Hehir-Kwa Jayne Y
Abstract excerpt
PURPOSE: The interpretation of genetic variants after genome-wide analysis is complex in heterogeneous disorders such as intellectual disability (ID). We investigate whether algorithms can be used to detect if a facial gestalt is present for three novel ID syndromes and if these techniques can help interpret variants of uncertain significance. METHODS: Facial features were extracted from photos of ID patients...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.